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Phenotype and genotype of AKT3-related disorders.

Seizure - 1 May 2026

Zhang Shimin, Li Qinrui, Xu Zhao, Qin Jiong, Yang Zhixian, Niu Yue

Abstract excerpt

OBJECTIVES: To systematically define and elucidate the relationship between clinical manifestations and genetic features of somatic and germline AKT3 variants. METHODS: We collected clinical data, MRI and EEG data from five Chinese children with AKT3 variants. Furthermore, we systematically reviewed published literature on AKT3 variants. RESULTS: Five patients with germline AKT3 variants were identified in the...

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Identifiers

PMID: 42044617
DOI: 10.1016/j.seizure.2026.04.021

Genes

AKT3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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